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Heterogeneous mutations in the glucose‐6‐phosphatase gene in Japanese patients with glycogen storage disease type Ia
Authors:Kazutoshi Takahashi  Jun Akanuma  Kunihiro Fujii  Shigeo Kure  Yoichi Suzuki  Kaoru Wataya  Osamu Sakamoto  Yoko Aoki  Masahito Ogasawara  Toshihiro Ohura  Shigeaki Miyabayashi  Kuniaki Narisawa
Affiliation:1. Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan;2. Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan
Abstract:
Keywords:glycogen storage disease type Ia  glucose‐6‐phosphatase gene  allelic heterogeneity  DNA diagnosis
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